Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 MUTATION
SMAD4 MUTATION - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- In a retrospective analysis of 65 patients with metastatic colorectal cancer, SMAD4 mutations were more common among patients with no benefit from EGFR-inhibition (cetuximab or panitumumab) (4 patients) than with patients with response to EGFR directed treatment (1 patient).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/719
- Gene URL
- https://civic.genome.wustl.edu/links/genes/77
- Variant URL
- https://civic.genome.wustl.edu/links/variants/216
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Cetuximab,Panitumumab
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 26508446
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cetuximab | Resitance or Non-Reponse | true |
| Panitumumab | Resitance or Non-Reponse | true |